103[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 292710	NM_001111.5(ADAR):c.*2727dup	ADAR	Duplication (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 875232	NM_001111.5(ADAR):c.*2643G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 875233	NM_001111.5(ADAR):c.*2636G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292711	NM_001111.5(ADAR):c.*2623C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292712	NM_001111.5(ADAR):c.*2586C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292713	NM_001111.5(ADAR):c.2323_2330dup	ADAR	Duplication (3 prime UTR variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 875234	NM_001111.5(ADAR):c.*2317C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292714	NM_001111.5(ADAR):c.*2316G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292715	NM_001111.5(ADAR):c.*2199C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 875235	NM_001111.5(ADAR):c.*2153T>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 876195	NM_001111.5(ADAR):c.*2134T>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 876196	NM_001111.5(ADAR):c.*2033G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 876197	NM_001111.5(ADAR):c.*1919T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 876198	NM_001111.5(ADAR):c.*1871A>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292716	NM_001111.5(ADAR):c.1799_1800del	ADAR	Deletion (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292717	NM_001111.5(ADAR):c.*1790A>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities +1 more	GBenign
Select item 876199	NM_001111.5(ADAR):c.*1751T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292718	NM_001111.5(ADAR):c.*1728C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292719	NM_001111.5(ADAR):c.*1712C>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 876333	NM_001111.5(ADAR):c.*1614T>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292720	NM_001111.5(ADAR):c.*1566T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292721	NM_001111.5(ADAR):c.*1549T>A	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 876334	NM_001111.5(ADAR):c.*1454C>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292722	NM_001111.5(ADAR):c.*1436G>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292723	NM_001111.5(ADAR):c.*1406A>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292724	NM_001111.5(ADAR):c.*1397C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GLikely benign
Select item 292725	NM_001111.5(ADAR):c.*1344G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 874364	NM_001111.5(ADAR):c.*1336A>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 874365	NM_001111.5(ADAR):c.*1322A>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292726	NM_001111.5(ADAR):c.*1242A>C	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 874366	NM_001111.5(ADAR):c.*1221C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 874367	NM_001111.5(ADAR):c.*1192C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292727	NM_001111.5(ADAR):c.*1104T>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292728	NM_001111.5(ADAR):c.*1036C>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292729	NM_001111.5(ADAR):c.*1016C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 875286	NM_001111.5(ADAR):c.*989C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292730	NM_001111.5(ADAR):c.*943C>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292731	NM_001111.5(ADAR):c.*938A>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292732	NM_001111.5(ADAR):c.*898G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 875287	NM_001111.5(ADAR):c.*885G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292733	NM_001111.5(ADAR):c.*884C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292734	NM_001111.5(ADAR):c.*857C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities +1 more	GBenign
Select item 292735	NM_001111.5(ADAR):c.*844G>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GLikely benign
Select item 292736	NM_001111.5(ADAR):c.*825G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292737	NM_001111.5(ADAR):c.*812C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292738	NM_001111.5(ADAR):c.*749G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292739	NM_001111.5(ADAR):c.*714G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292740	NM_001111.5(ADAR):c.*619C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 876248	NM_001111.5(ADAR):c.*612A>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 876249	NM_001111.5(ADAR):c.*590G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292741	NM_001111.5(ADAR):c.*527A>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292742	NM_001111.5(ADAR):c.*517AG[1]	ADAR	Microsatellite (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292743	NM_001111.5(ADAR):c.*519del	ADAR	Deletion (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292744	NM_001111.5(ADAR):c.503_505del	ADAR	Deletion (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GLikely benign
Select item 292745	NM_001111.5(ADAR):c.*479T>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292746	NM_001111.5(ADAR):c.*468G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292747	NM_001111.5(ADAR):c.*413A>T	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 292748	NM_001111.5(ADAR):c.*368G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 292749	NM_001111.5(ADAR):c.*361C>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292750	NM_001111.5(ADAR):c.*323G>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292751	NM_001111.5(ADAR):c.*319del	ADAR	Deletion (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292752	NM_001111.5(ADAR):c.*317T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 1205780	NM_001111.5(ADAR):c.*309T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 874417	NM_001111.5(ADAR):c.*301C>T	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292753	NM_001111.5(ADAR):c.*245T>C	ADAR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 292754	NM_001111.5(ADAR):c.*206T>G	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292755	NM_001111.5(ADAR):c.*110dup	ADAR	Duplication (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 292756	NM_001111.5(ADAR):c.*60G>A	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 874418	NM_001111.5(ADAR):c.*25G>C	ADAR	Single nucleotide variant (3 prime UTR variant)	Symmetrical dyschromatosis of extremities	GBenign
Select item 3058649	NM_001111.5(ADAR):c.*2A>G	ADAR	Single nucleotide variant (3 prime UTR variant)	ADAR-related disorder	GLikely benign
Select item 1930938	NM_001111.5(ADAR):c.3673C>G (p.Pro1225Ala)	ADAR (P904A +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2949974	NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)	ADAR (Y1177S +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2076850	NM_001111.5(ADAR):c.3663T>C (p.Phe1221=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1409415	NM_001111.5(ADAR):c.3657G>T (p.Lys1219Asn)	ADAR (K1228N +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1545943	NM_001111.5(ADAR):c.3651G>A (p.Glu1217=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2197076	NM_001111.5(ADAR):c.3647A>G (p.Gln1216Arg)	ADAR (Q1171R +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 292757	NM_001111.5(ADAR):c.3645C>G (p.Pro1215=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities	GUncertain significance
Select item 1713499	NM_001111.5(ADAR):c.3641A>G (p.Lys1214Arg)	ADAR (K1169R +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2940454	NM_001111.5(ADAR):c.3636T>C (p.Ile1212=)	ADAR	Single nucleotide variant (synonymous variant)	Symmetrical dyschromatosis of extremities +1 more	GLikely benign
Select item 2939348	NM_001111.5(ADAR):c.3634A>G (p.Ile1212Val)	ADAR (I1221V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2953399	NM_001111.5(ADAR):c.3633del (p.Asn1210_Trp1211insTer)	ADAR	Deletion (nonsense)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1518672	NM_001111.5(ADAR):c.3632G>T (p.Trp1211Leu)	ADAR (W890L +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2230451	NM_001111.5(ADAR):c.3629A>G (p.Asn1210Ser)	ADAR (N889S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1963719	NM_001111.5(ADAR):c.3627G>C (p.Gly1209=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 1174930	NM_001111.5(ADAR):c.3623A>G (p.Tyr1208Cys)	ADAR (Y1163C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2952325	NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)	ADAR (G1176V +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 2922151	NM_001111.5(ADAR):c.3605G>C (p.Gly1202Ala)	ADAR (G1157A +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2143118	NM_001111.5(ADAR):c.3599A>G (p.Lys1200Arg)	ADAR (K1200R +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1440355	NM_001111.5(ADAR):c.3598A>C (p.Lys1200Gln)	ADAR (K1174Q +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 540261	NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly)	ADAR (A1195G +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance
Select item 1575920	NM_001111.5(ADAR):c.3582G>A (p.Thr1194=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 961650	NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)	ADAR (T1149M +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 424040	NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys)	ADAR (E1193K +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1668851	NM_001111.5(ADAR):c.3576C>T (p.Tyr1192=)	ADAR	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 6 +1 more	GLikely benign
Select item 2202842	NM_001111.5(ADAR):c.3574T>G (p.Tyr1192Asp)	ADAR (Y1166D +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 2046945	NM_001111.5(ADAR):c.3571G>C (p.Asp1191His)	ADAR (D1146H +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 1373038	NM_001111.5(ADAR):c.3569G>A (p.Arg1190His)	ADAR (R1199H +5 more)	Single nucleotide variant (missense variant)	Symmetrical dyschromatosis of extremities +1 more	GUncertain significance

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